Kctd7 potassium channel tetramerisation domain containing 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kctd7provided by MGI
Official Full Name: potassium channel tetramerisation domain containing 7provided by MGI
Primary source: MGI:MGI:2442265
See related: Ensembl:ENSMUSG00000034110 AllianceGenome:MGI:2442265
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 4932409E18; 9430010P06Rik
Summary: Predicted to enable identical protein binding activity. Involved in intracellular potassium ion homeostasis; membrane hyperpolarization; and positive regulation of transporter activity. Located in plasma membrane. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 3. Orthologous to human KCTD7 (potassium channel tetramerization domain containing 7). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis adult (RPKM 5.8), adrenal adult (RPKM 4.4) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G1.3; 5 68.72 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (130166814..130183960)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (130137978..130155119)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects.
Title: Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects.
Deletion of Kctd7 induces defective patterning of the adult mouse retina vascular network, resulting in increased branching, vessel length, and lacunarity. These alterations reflect early and specific defects in vessel development, as emergence of the superficial and deep vascular layers were delayed. These defects are likely due to a role for Kctd7 in inner retina neurons.
Title: Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function.
KCTD7 expression hyperpolarizes the cell membrane and reduces the excitability of transfected neurons in patch clamp experiments.
Title: Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in intracellular glutamate homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular glutamate homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular potassium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane hyperpolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane hyperpolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: BTB/POZ domain-containing protein KCTD7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172509.4 → NP_766097.1 BTB/POZ domain-containing protein KCTD7

See identical proteins and their annotated locations for NP_766097.1

Status: VALIDATED

Source sequence(s)

AC122339

Consensus CDS

CCDS19707.1

UniProtKB/Swiss-Prot

B2RSZ3, Q3USA6, Q80WW8, Q8BJK1, Q8C0S7

Related

ENSMUSP00000044568.3, ENSMUST00000040616.9

Conserved Domains (1) summary

cd18366
Location:48 → 139

BTB_POZ_KCTD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 7 (KCTD7)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

130166814..130183960

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164981.1 → XP_036020874.1 BTB/POZ domain-containing protein KCTD7 isoform X1

UniProtKB/Swiss-Prot

B2RSZ3, Q3USA6, Q80WW8, Q8BJK1, Q8C0S7

Conserved Domains (1) summary

cd18366
Location:48 → 139

BTB_POZ_KCTD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 7 (KCTD7)
XM_006504401.4 → XP_006504464.1 BTB/POZ domain-containing protein KCTD7 isoform X2

Conserved Domains (1) summary

cl38908
Location:1 → 64

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily